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A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
Mercedes Rodriguez Celin1,2,3, Karen M Kruger2,3, Angela Caudill2
1Orthopaedic Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
American Journal of Medical Genetics. Part A
|October 22, 2022
Summary
Chronic pain affects over 40% of individuals with osteogenesis imperfecta (OI), impacting mobility and daily life. Key predictors include age, wheelchair use, and fracture history.
Area of Science:
- Medical Research
- Rare Diseases
- Pain Management
Background:
- Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by brittle bones.
- Chronic pain is a significant but understudied complication in individuals with OI.
- Understanding pain characteristics and predictors is crucial for improving patient care.
Purpose of the Study:
- To describe pain characteristics and treatments in individuals with varying osteogenesis imperfecta (OI) severity.
- To investigate variables associated with chronic pain in OI patients.
- To identify predictors of chronic pain across all OI types.
Main Methods:
- Cross-sectional and longitudinal analyses were performed on data from 861 individuals with OI.
- Data were collected from a multicenter, longitudinal, observational, natural history study.
- Prevalence, characteristics, treatments, and predictors of chronic pain were analyzed.
Main Results:
- Chronic pain was present in 41.8% of individuals with OI, irrespective of OI type.
- Back pain was the most frequent complaint, with NSAIDs and bisphosphonates as common treatments.
- Chronic pain was associated with increased school/work absenteeism and poorer mobility, with age, sex, rodding surgery, scoliosis, comorbidities, assistive devices, height, and BMI as significant covariates.
Conclusions:
- Chronic pain is highly prevalent in osteogenesis imperfecta (OI) across all subtypes.
- Pain significantly impacts physical function, mobility, and participation in daily activities.
- Age, wheelchair use, and fracture frequency are key predictors of chronic pain in OI.

